ClinVar Miner

List of variants in gene SLC52A2 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.1024dup (p.Leu342fs)
NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala) rs1175039425
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly) rs1554854341

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